학술논문
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1~10
Academic Journal
Bianca Panis; E. Naomi Vos; Ivo Barić; Annet M. Bosch; Martijn C. G. J. Brouwers; Alberto Burlina; David Cassiman; David J. Coman; María L. Couce; Anibh M. Das; Didem Demirbas; Aurélie Empain; Matthias Gautschi; Olga Grafakou; Stephanie Grunewald; Sandra D. K. Kingma; Ina Knerr; Elisa Leão-Teles; Dorothea Möslinger; Elaine Murphy; Katrin Õunap; Adriana Pané; Sabrina Paci; Rossella Parini; Isabel A. Rivera; Sabine Scholl-Bürgi; Ida V. D. Schwartz; Triantafyllia Sdogou; Loai A. Shakerdi; Anastasia Skouma; Karolina M. Stepien; Eileen P. Treacy; Susan Waisbren; Gerard T. Berry; M. Estela Rubio-Gozalbo
Frontiers in Genetics, Vol 15 (2024)
Academic Journal
Mauring, L.; Puusepp, S.; Parik, M.; Roomets, E.; Teek, R.; Reimand, T.; Pajusalu, S.; Kaljurand, K.; Õunap, K.
In European Journal of Medical Genetics September 2023 66(9)
Academic Journal
Laura Roht; Hanne K. Hyldebrandt; Astrid T. Stormorken; Hilde Nordgarden; Rolf H. Sijmons; Dennis K. Bos; Douglas Riegert‐Johnson; Sarah Mantia‐Macklin; Pilvi Ilves; Kai Muru; Monica H. Wojcik; Tiina Kahre; Katrin Õunap
Molecular Genetics & Genomic Medicine, Vol 11, Iss 6, Pp n/a-n/a (2023)
Academic Journal
Sally C. Fletcher; Charlotte Hall; Tristan J. Kennedy; Sander Pajusalu; Monica H. Wojcik; Uncaar Boora; Chan Li; Kaisa Teele Oja; Eline Hendrix; Christian A.E. Westrip; Regina Andrijes; Sonia K. Piasecka; Mansi Singh; Mohammed E. El-Asrag; Anetta Ptasinska; Vallo Tillmann; Martin R. Higgs; Deanna A. Carere; Andrew D. Beggs; John Pappas; Rachel Rabin; Stephen J. Smerdon; Grant S. Stewart; Katrin Õunap; Mathew L. Coleman
The Journal of Clinical Investigation, Vol 133, Iss 7 (2023)
Academic Journal
Monika Oláhová; Bradley Peter; Zsolt Szilagyi; Hector Diaz-Maldonado; Meenakshi Singh; Ewen W. Sommerville; Emma L. Blakely; Jack J. Collier; Emily Hoberg; Viktor Stránecký; Hana Hartmannová; Anthony J. Bleyer; Kim L. McBride; Sasigarn A. Bowden; Zuzana Korandová; Alena Pecinová; Hans-Hilger Ropers; Kimia Kahrizi; Hossein Najmabadi; Mark A. Tarnopolsky; Lauren I. Brady; K. Nicole Weaver; Carlos E. Prada; Katrin Õunap; Monica H. Wojcik; Sander Pajusalu; Safoora B. Syeda; Lynn Pais; Elicia A. Estrella; Christine C. Bruels; Louis M. Kunkel; Peter B. Kang; Penelope E. Bonnen; Tomáš Mráček; Stanislav Kmoch; Gráinne S. Gorman; Maria Falkenberg; Claes M. Gustafsson; Robert W. Taylor
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Academic Journal
Koolen, David A; Pfundt, Rolph; Linda, Katrin; Beunders, Gea; Veenstra-Knol, Hermine E; Conta, Jessie H; Fortuna, Ana Maria; Gillessen-Kaesbach, Gabriele; Dugan, Sarah; Halbach, Sara; Abdul-Rahman, Omar A; Winesett, Heather M; Chung, Wendy K; Dalton, Marguerite; Dimova, Petia S; Mattina, Teresa; Prescott, Katrina; Zhang, Hui Z; Saal, Howard M; Hehir-Kwa, Jayne Y; Willemsen, Marjolein H; Ockeloen, Charlotte W; Jongmans, Marjolijn C; Van der Aa, Nathalie; Failla, Pinella; Barone, Concetta; Avola, Emanuela; Brooks, Alice S; Kant, Sarina G; Gerkes, Erica H; Firth, Helen V; Õunap, Katrin; Bird, Lynne M; Masser-Frye, Diane; Friedman, Jennifer R; Sokunbi, Modupe A; Dixit, Abhijit; Splitt, Miranda; Kukolich, Mary K; McGaughran, Julie; Coe, Bradley P; Flórez, Jesús; Nadif Kasri, Nael; Brunner, Han G; Thompson, Elizabeth M; Gecz, Jozef; Romano, Corrado; Eichler, Evan E; de Vries, Bert BA
European Journal of Human Genetics. 24(5)
Academic Journal
Wojcik, M.H.; Agrawal, P.B.; Win, W.; Stenton, S.L.; Madden, J.A.; Lin, J.; Genetti, C.A.; Gazda, H.T.; Beggs, A.H.; O'Donnell-Luria, A.; Lemire, G.; Pais, L.; Groopman, E.; Ganesh, V.S.; Shril, S.; Schneider, R.; Hildebrandt, F.; Chung, W.K.; Wissmann, M.; Verboon, J.M.; Sankaran, V.G.; Cato, L.D.; Sanchis-Juan, A.; Goodrich, J.; Gburek-Augustat, J.; Fu, J.M.; Brand, H.; Talkowski, M.; Austin-Tse, C.; Rehm, H.L.; Pierce, E.A.; Place, E.M.; Bujakowska, K.M.; Weisburd, B.; VanNoy, G.E.; Snow, H.; Singer-Berk, M.; Seaby, E.G.; Russell, K.A.; Osei-Owusu, I.; O'Leary, M.; O'Heir, E.; Mangilog, B.E.; MacArthur, D.; Lovgren, A.; Evangelista, E.; England, E.; DiTroia, S.; Chao, K.R.; Baxter, S.M.; Berger, E.; Strehlow, V.; Radtke, M.; Popp, D.; Platzer, K.; Opperman, H.; Hentschel, J.; Bartolomaeus, T.; Jamra, R.A.; Merkenschlager, A.; Wieczorek, D.; Syrbe, S.; Polster, T.; Zaki, M.S.; White, S.M.; Tan, T.Y.; Gallacher, L.; Christodoulou, J.; Waddell, L.B.; Marchant, R.G.; Cooper, S.T.; Bryen, S.J.; Ravenscroft, G.; Laing, N.; Ghaoui, R.; Topf, A.; Straub, V.; Silver, J.; Morel, C.F.; Lerner-Ellis, J.P.; Reinson, K.; Pajusalu, S.; Ounap, K.; Oja, K.T.; Okur, V.; Ganapathi, M.; Gleeson, J.G.; Donkervoort, S.; Bonnemann, C.G.
In: New England Journal of Medicine . (New England Journal of Medicine, 6 June 2024, 390(21):1985-1997)
Academic Journal
Selvarajan, I.; Kiema, M.; Örd, T.; Õunap, K.; Godiwala, M.; Ravindran, A.; Mäklin, K.; Toropainen, A.; Laakkonen, J.P.; Kaikkonen, M.U.; Pölönen, P.; Heinäniemi, M.; Golebiewski, A.K.; Stolze, L.K.; Romanoski, C.E.; Huang, R.-T.; Li, J.; Zhu, J.; Fang, Y.; Arce, M.; Magnusson, P.U.; White, S.
In: Arteriosclerosis, Thrombosis, and Vascular Biology . (Arteriosclerosis, Thrombosis, and Vascular Biology, 1 June 2024, 44(6):1330-1345)
Academic Journal
Rots, D.; Pfundt, R.; Marcelis, C.; Willemsen, M.H.; Brunner, H.G.; Vissers, L.E.L.M.; Kleefstra, T.; Rooney, K.; Relator, R.; Kerkhof, J.; McConkey, H.; Sadikovic, B.; van Hagen, J.M.; Zwijnenburg, P.; Alders, M.; Õunap, K.; Reimand, T.; Fjodorova, O.; Berland, S.; Liahjell, E.B.; Bojovic, O.; Kriek, M.; Ruivenkamp, C.; Bonati, M.T.
In: Clinical Genetics . (Clinical Genetics, June 2024, 105(6):655-660)
Academic Journal
Lemire, G.; Sanchis-Juan, A.; Russell, K.; Baxter, S.; Chao, K.R.; Singer-Berk, M.; Groopman, E.; Wong, I.; England, E.; Goodrich, J.; Pais, L.; Austin-Tse, C.; DiTroia, S.; O'Heir, E.; Ganesh, V.S.; Wojcik, M.H.; Evangelista, E.; Snow, H.; Osei-Owusu, I.; Fu, J.; Singh, M.; Mostovoy, Y.; Huang, S.; Garimella, K.; MacArthur, D.G.; Rehm, H.L.; Talkowski, M.E.; Brand, H.; O'Donnell-Luria, A.; Walsh, C.A.; Sankaran, V.G.; Beggs, A.H.; Agrawal, P.B.; Bujakowska, K.M.; Place, E.; Pierce, E.A.; Kirkham, S.L.; Neil, J.E.; Shao, D.D.; Madden, J.A.; Genetti, C.A.; Shril, S.; Schneider, R.; Hildebrandt, F.; Fleming, M.D.; Pollak, M.R.; Argilli, E.; Le, C.; Sherr, E.H.; Gleeson, J.G.; Donkervoort, S.; Bönnemann, C.G.; Gallacher, L.; Stark, Z.; Tan, T.Y.; White, S.M.; Töpf, A.; Straub, V.; Õunap, K.; Pajusalu, S.; Donald, K.A.; Bruwer, Z.; Ravenscroft, G.; Laing, N.G.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 2 May 2024, 111(5):863-876)
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